Canonical Allele Identifier: CA645570267

Gene: RPGRIP1

Linked Data

• COSMIC: COSM6438476 ; COSM6438477 ; COSM6438478

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.21324865_21324866delinsAA , CM000676.2:g.21324865_21324866delinsAA	GRCh38
NC_000014.8:g.21793024_21793025delinsAA , CM000676.1:g.21793024_21793025delinsAA	GRCh37
NC_000014.7:g.20862864_20862865delinsAA	NCBI36
NG_008933.1:g.41889_41890delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400017.7:c.2010_2011delinsAA MANE Select	ENSP00000382895.2:p.Gly671Arg
ENST00000382933.8:c.689-2758_689-2757delinsAA	ENSP00000372391.4:n.689-2758_689-2757delinsAA
ENST00000400017.6:c.2010_2011delinsAA	ENSP00000382895.2:p.Gly671Arg
ENST00000553500.5:n.328+140_328+141delinsAA
ENST00000553927.1:n.942_943delinsAA
ENST00000554303.1:c.396_397delinsAA	ENSP00000450426.1:p.Gly133Arg
ENST00000555322.5:c.437_438delinsAA
ENST00000555489.5:c.213-10_213-9delinsAA	ENSP00000451044.1:n.213-10_213-9delinsAA
ENST00000555587.5:c.435_436delinsAA	ENSP00000451262.1:p.Gly146Arg
ENST00000556336.5:c.1682-2758_1682-2757delinsAA	ENSP00000450445.1:n.1682-2758_1682-2757delinsAA
ENST00000557771.5:c.1896_1897delinsAA	ENSP00000451219.1:p.Gly633Arg
NM_020366.3:c.2010_2011delinsAA	NP_065099.3:p.Gly671Arg
XM_005267879.2:c.936_937delinsAA	XP_005267936.1:p.Gly313Arg
XM_005267880.2:c.903_904delinsAA	XP_005267937.1:p.Gly302Arg
XM_005267881.2:c.384_385delinsAA	XP_005267938.1:p.Gly129Arg
XM_011536978.1:c.936_937delinsAA	XP_011535280.1:p.Gly313Arg
XM_011536979.1:c.797-77_797-76delinsAA	XP_011535281.1:n.797-77_797-76delinsAA
XM_011536980.1:c.796+140_796+141delinsAA	XP_011535282.1:n.796+140_796+141delinsAA
XM_011536981.1:c.936_937delinsAA	XP_011535283.1:p.Gly313Arg
XM_011536982.1:c.796+140_796+141delinsAA	XP_011535284.1:n.796+140_796+141delinsAA
XM_011536983.1:c.1977_1978delinsAA	XP_011535285.1:p.Gly660Arg
XM_005267881.3:c.384_385delinsAA	XP_005267938.1:p.Gly129Arg
XM_017021473.1:c.936_937delinsAA	XP_016876962.1:p.Gly313Arg
XM_024449663.1:c.936_937delinsAA	XP_024305431.1:p.Gly313Arg
XM_024449664.1:c.936_937delinsAA	XP_024305432.1:p.Gly313Arg
XM_024449665.1:c.796+140_796+141delinsAA	XP_024305433.1:n.796+140_796+141delinsAA
XM_024449666.1:c.796+140_796+141delinsAA	XP_024305434.1:n.796+140_796+141delinsAA
NM_001377523.1:c.689-2758_689-2757delinsAA	NP_001364452.1:n.689-2758_689-2757delinsAA
NM_001377948.1:c.936_937delinsAA	NP_001364877.1:p.Gly313Arg
NM_001377949.1:c.796+140_796+141delinsAA	NP_001364878.1:n.796+140_796+141delinsAA
NM_001377950.1:c.689-2758_689-2757delinsAA	NP_001364879.1:n.689-2758_689-2757delinsAA
NM_001377951.1:c.191-2758_191-2757delinsAA	NP_001364880.1:n.191-2758_191-2757delinsAA
NM_020366.4:c.2010_2011delinsAA MANE Select	NP_065099.3:p.Gly671Arg